Variant report

Variant	rs72817121
Chromosome Location	chr5:114908924-114908925
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114645171..114646099-chr5:114908180..114909218,4	K562	blood:
2	chr5:114908239..114910015-chr5:114914437..114916676,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs6868540	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72817106	0.93[EUR][1000 genomes]
rs72817112	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72817115	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72817123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114901400-114922400	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:114902400-114911200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:114904800-114911200	Weak transcription	HSMMtube	muscle
4	chr5:114906200-114909000	Enhancers	Brain Anterior Caudate	brain
5	chr5:114906200-114909000	Enhancers	Brain Hippocampus Middle	brain
6	chr5:114906200-114910600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr5:114906400-114909000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:114906400-114909000	Enhancers	Brain Substantia Nigra	brain
9	chr5:114906400-114910400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:114906800-114910200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:114907000-114909000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:114907000-114909000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:114907400-114909000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:114907600-114911000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr5:114907800-114918200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:114908200-114909000	Enhancers	HSMM	muscle
17	chr5:114908200-114909200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:114908200-114909800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:114908200-114911000	Enhancers	HUVEC	blood vessel
20	chr5:114908200-114918600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:114908400-114909000	Enhancers	Psoas Muscle	Psoas
22	chr5:114908400-114909200	Enhancers	NH-A	brain
23	chr5:114908400-114909600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:114908400-114911200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:114908400-114912400	Enhancers	NHDF-Ad	bronchial
26	chr5:114908600-114909200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:114908600-114909400	Enhancers	Fetal Heart	heart
28	chr5:114908600-114912200	Enhancers	Osteobl	bone
29	chr5:114908800-114909000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:114908800-114909000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:114908800-114909000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:114908800-114909000	Enhancers	Left Ventricle	heart
33	chr5:114908800-114909000	Enhancers	NHEK	skin
34	chr5:114908800-114909400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:114908800-114909400	Enhancers	NHLF	lung
36	chr5:114908800-114909600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr5:114908800-114910200	Weak transcription	Brain Angular Gyrus	brain
38	chr5:114908800-114911600	Enhancers	GM12878-XiMat	blood
39	chr5:114908800-114915200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr5:114908800-114918600	Weak transcription	Brain Inferior Temporal Lobe	brain

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